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Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.

ABSTRACT: Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in JAG1 or less frequently, mutations in NOTCH2. The disease has been difficult to diagnose and treat due to variable expression. The generation of this iPSC line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment.

SUBMITTER: Hatim O 

PROVIDER: S-EPMC11144073 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature

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Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.

Hatim Omer O   Xu Miao M   Pavlinov Ivan I   Linask Kaari K   Beers Jeanette J   Zou Jizhong J   Liu Chengyu C   Rodems Steven S   Baumgärtel Karsten K   Gilbert Melissa A MA   Spinner Nancy B NB   Chen Catherine C   Zheng Wei W  

Stem cell research 20240429

Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in JAG1 or less frequently, mutations in NOTCH2. The disease has been difficult to diagnose and treat due to variable expression. The generation of this iPSC line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment. ...[more]

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